Glycogen storage disease IXa2
MONDO:0100439Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.
Also known as: GSD IXa2, GSD9A2, liver glycogenosis, X-linked, type 2
3 clinical trials for this condition and its sub-types, 2 tagged with Glycogen storage disease IXa2 itself.
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Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?
Knowledge-focused Recruiting nowThis study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…
Sponsor: Institute of Liver and Biliary Sciences, India • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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Researchers launch Largest-Ever natural history study for rare GSD types
Knowledge-focused Recruiting nowThis study is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab r…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC